{
  "url": "https://dantelabs.com/hu/genes/sting1",
  "gene": {
    "slug": "sting1",
    "symbol": "STING1",
    "name": "stimulator of interferon response cGAMP interactor 1",
    "hgnc": "HGNC:27962",
    "summary": null,
    "location": "5q31.2",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ38577",
      "NET23",
      "ERIS",
      "MPYS",
      "STING",
      "MITA"
    ],
    "previousSymbols": [
      "TMEM173"
    ],
    "ensemblId": "ENSG00000184584",
    "entrezId": 340061,
    "omim": [
      "612374"
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    "uniprot": [
      "Q86WV6"
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      "chrom": "5",
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      "end": 139482758,
      "strand": "-",
      "ensemblTranscript": "ENST00000330794.9",
      "refseqTranscript": "NM_198282.4",
      "ensemblProtein": "ENSP00000331288.4",
      "refseqProtein": "NP_938023.1",
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    },
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      "chrom": "5",
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      "end": 138862520,
      "strand": "-"
    },
    "neighbourhood": {
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      "end": 139979145,
      "genes": [
        {
          "symbol": "SIL1",
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          "biotype": "protein_coding",
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        {
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        {
          "symbol": "PAIP2",
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          "biotype": "protein_coding",
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        {
          "symbol": "SLC23A1",
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          "end": 139385495,
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        {
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          "strand": "-",
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        {
          "symbol": "PROB1",
          "ensemblId": "ENSG00000228672",
          "biotype": "protein_coding",
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          "end": 139395104,
          "strand": "-",
          "slug": "prob1"
        },
        {
          "symbol": "SPATA24",
          "ensemblId": "ENSG00000170469",
          "biotype": "protein_coding",
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          "end": 139404094,
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        {
          "symbol": "DNAJC18",
          "ensemblId": "ENSG00000170464",
          "biotype": "protein_coding",
          "start": 139408588,
          "end": 139444491,
          "strand": "-",
          "slug": "dnajc18"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000279686",
          "biotype": "protein_coding",
          "start": 139442316,
          "end": 139462707,
          "strand": "-"
        },
        {
          "symbol": "ECSCR",
          "ensemblId": "ENSG00000249751",
          "biotype": "protein_coding",
          "start": 139446541,
          "end": 139462751,
          "strand": "-",
          "slug": "ecscr"
        },
        {
          "symbol": "SMIM33",
          "ensemblId": "ENSG00000283288",
          "biotype": "protein_coding",
          "start": 139471004,
          "end": 139474650,
          "strand": "+",
          "slug": "smim33"
        },
        {
          "symbol": "UBE2D2",
          "ensemblId": "ENSG00000131508",
          "biotype": "protein_coding",
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          "end": 139633291,
          "strand": "+",
          "slug": "ube2d2"
        },
        {
          "symbol": "CXXC5",
          "ensemblId": "ENSG00000171604",
          "biotype": "protein_coding",
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          "end": 139683882,
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        {
          "symbol": "PSD2",
          "ensemblId": "ENSG00000146005",
          "biotype": "protein_coding",
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          "end": 139844470,
          "strand": "+",
          "slug": "psd2"
        },
        {
          "symbol": "NRG2",
          "ensemblId": "ENSG00000158458",
          "biotype": "protein_coding",
          "start": 139846779,
          "end": 140043328,
          "strand": "-",
          "slug": "nrg2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "rare-monogenic-autoinflammatory-diseases",
        "name": "Rare Monogenic Autoinflammatory Diseases",
        "diseases": [
          {
            "mondoId": "MONDO:0957018",
            "name": "PTPN2-related autoinflammation and autoimmunity",
            "genes": 22,
            "inheritance": "autosomal-dominant",
            "description": "Early-onset inflammatory and autoimmune disease, including colitis and arthritis, caused by variants in PTPN2.",
            "management": null,
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/rare-monogenic-autoinflammatory-diseases"
      },
      {
        "slug": "type-1-interferonopathies",
        "name": "Type I Interferonopathies",
        "diseases": [
          {
            "mondoId": "MONDO:0014405",
            "name": "STING-associated vasculopathy with onset in infancy (SAVI)",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Inflammation of small blood vessels and the lungs starting in infancy, caused by gain-of-function variants in STING1; JAK inhibitors are used in treatment.",
            "management": null,
            "evidence": {
              "gencc": [
                "Genomics England PanelApp",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant",
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/type-1-interferonopathies"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "antinuclear-antibody-positivity",
        "name": "Antinuclear antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/antinuclear-antibody-positivity"
      },
      {
        "slug": "antiphospholipid-antibody-positivity",
        "name": "Antiphospholipid antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/antiphospholipid-antibody-positivity"
      },
      {
        "slug": "cutis-marmorata",
        "name": "Cutis marmorata",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cutis-marmorata"
      },
      {
        "slug": "cytoplasmic-antineutrophil-antibody-positivity",
        "name": "Cytoplasmic antineutrophil antibody positivity",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cytoplasmic-antineutrophil-antibody-positivity"
      },
      {
        "slug": "decreased-total-leukocyte-count",
        "name": "Decreased blood leukocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-total-leukocyte-count"
      },
      {
        "slug": "decreased-total-lymphocyte-count",
        "name": "Decreased blood lymphocyte number",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-total-lymphocyte-count"
      },
      {
        "slug": "elevated-circulating-c-reactive-protein-concentration",
        "name": "Elevated circulating C-reactive protein concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-c-reactive-protein-concentration"
      },
      {
        "slug": "recurrent-fever",
        "name": "Episodic fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-fever"
      },
      {
        "slug": "failure-to-thrive",
        "name": "Faltering weight",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/failure-to-thrive"
      },
      {
        "slug": "follicular-hyperplasia",
        "name": "Follicular hyperplasia",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/follicular-hyperplasia"
      },
      {
        "slug": "elevated-erythrocyte-sedimentation-rate",
        "name": "High ESR",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-erythrocyte-sedimentation-rate"
      },
      {
        "slug": "increased-circulating-iga-concentration",
        "name": "Increased circulating IgA concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-iga-concentration"
      },
      {
        "slug": "increased-circulating-igg-concentration",
        "name": "Increased circulating IgG concentration",
        "systems": [
          "abnormal-cellular-phenotype",
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-igg-concentration"
      },
      {
        "slug": "thrombocytosis",
        "name": "Increased number of platelets in blood",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thrombocytosis"
      },
      {
        "slug": "tachypnea",
        "name": "Increased respiratory rate or depth of breathing",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tachypnea"
      },
      {
        "slug": "arthralgia",
        "name": "Joint pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arthralgia"
      },
      {
        "slug": "joint-stiffness",
        "name": "Joint stiffness",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/joint-stiffness"
      },
      {
        "slug": "livedo-reticularis",
        "name": "Livedo reticularis",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/livedo-reticularis"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "malar-rash",
        "name": "Malar rash",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/malar-rash"
      },
      {
        "slug": "skeletal-muscle-atrophy",
        "name": "Muscle degeneration",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy"
      },
      {
        "slug": "myositis",
        "name": "Muscle inflammation",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myositis"
      },
      {
        "slug": "nailfold-capillary-tortuosity",
        "name": "Nailfold capillary tortuosity",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nailfold-capillary-tortuosity"
      },
      {
        "slug": "nasal-septum-perforation",
        "name": "Nasal septum perforation",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nasal-septum-perforation"
      },
      {
        "slug": "paratracheal-lymphadenopathy",
        "name": "Paratracheal lymphadenopathy",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/paratracheal-lymphadenopathy"
      },
      {
        "slug": "periungual-erythema",
        "name": "Periungual erythema",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/periungual-erythema"
      },
      {
        "slug": "pustule",
        "name": "Pimple",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/pustule"
      },
      {
        "slug": "nail-dystrophy",
        "name": "Poor nail formation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nail-dystrophy"
      },
      {
        "slug": "pulmonary-fibrosis",
        "name": "Pulmonary scarring",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pulmonary-fibrosis"
      },
      {
        "slug": "pustular-rash",
        "name": "Pustular rash",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pustular-rash"
      },
      {
        "slug": "raynaud-phenomenon",
        "name": "Raynaud phenomenon",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/raynaud-phenomenon"
      },
      {
        "slug": "recurrent-infections",
        "name": "Recurrent infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-infections"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "erythema",
        "name": "Redness of skin or mucous membrane",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/erythema"
      },
      {
        "slug": "rheumatoid-factor-positive",
        "name": "Rheumatoid factor positive",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/rheumatoid-factor-positive"
      },
      {
        "slug": "skin-rash",
        "name": "Skin rash",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/skin-rash"
      },
      {
        "slug": "sparse-hair",
        "name": "Sparse hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/sparse-hair"
      },
      {
        "slug": "telangiectasia",
        "name": "Spider veins",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/telangiectasia"
      }
    ],
    "related": [
      {
        "slug": "acp5",
        "symbol": "ACP5",
        "name": "acid phosphatase 5, tartrate resistant",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/acp5"
      },
      {
        "slug": "ada2",
        "symbol": "ADA2",
        "name": "adenosine deaminase 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ada2"
      },
      {
        "slug": "adar",
        "symbol": "ADAR",
        "name": "adenosine deaminase RNA specific",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/adar"
      },
      {
        "slug": "copa",
        "symbol": "COPA",
        "name": "coat protein complex I subunit alpha",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/copa"
      },
      {
        "slug": "ifih1",
        "symbol": "IFIH1",
        "name": "interferon induced with helicase C domain 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ifih1"
      },
      {
        "slug": "pola1",
        "symbol": "POLA1",
        "name": "DNA polymerase alpha 1, catalytic subunit",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/pola1"
      },
      {
        "slug": "pomp",
        "symbol": "POMP",
        "name": "proteasome maturation protein",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/pomp"
      },
      {
        "slug": "psmb10",
        "symbol": "PSMB10",
        "name": "proteasome 20S subunit beta 10",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/psmb10"
      },
      {
        "slug": "psmb8",
        "symbol": "PSMB8",
        "name": "proteasome 20S subunit beta 8",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/psmb8"
      },
      {
        "slug": "psmb9",
        "symbol": "PSMB9",
        "name": "proteasome 20S subunit beta 9",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/psmb9"
      },
      {
        "slug": "ptpn2",
        "symbol": "PTPN2",
        "name": "protein tyrosine phosphatase non-receptor type 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/ptpn2"
      },
      {
        "slug": "rigi",
        "symbol": "RIGI",
        "name": "RNA sensor RIG-I",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/rigi"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}